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Entry | Name | Description | Category | Pathway | Gene |
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H02445 | Microcornea, myopic chorioretinal atrophy, and telecanthus | Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is a syndrome caused by mutations in ADAMTS18. ADAMTS18 encodes a member of a family of metallo-proteases that are known for their role in ... | Congenital malformation | ADAMTS18 [HSA:170692] [KO:K08632] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |